Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.986
Abstract: Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries… read more here.
Keywords: novel eln; aortic stenosis; stenosis; supravalvular aortic ... See more keywords
Comparison of Doty and McGoon techniques for surgical reconstruction of congenital supravalvular aortic stenosis.
Sign Up to like & getrecommendations! Published in 2021 at "Cardiology in the young"
DOI: 10.1017/s1047951121004467
Abstract: BACKGROUND We aimed to compare the results of two surgical methods for the treatment of congenital supravalvular aortic stenosis. METHODS From May 2004 to January 2020, 29 patients underwent surgical repair for supravalvular aportic stenosis… read more here.
Keywords: mcgoon; doty; aortic stenosis; stenosis ... See more keywords
Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Veterinary Internal Medicine"
DOI: 10.1111/jvim.15893
Abstract: Abstract This case report describes the clinical presentation, the necropsy findings, and genetic results of a 13‐year‐old Warmblood mare presented with colic and a bilaterally loud, holosystolic murmur. Echocardiographic examination revealed the presence of a… read more here.
Keywords: warmblood mare; warmblood; aortic stenosis; aortic aneurysm ... See more keywords
What's the Skinny on Elastin Deficiency and Supravalvular Aortic Stenosis?
Sign Up to like & getrecommendations! Published in 2017 at "Arteriosclerosis, thrombosis, and vascular biology"
DOI: 10.1161/atvbaha.117.309257
Abstract: Supravalvular aortic stenosis (SVAS), a localized narrowing of the aorta just distal to the aortic valve, has been encountered sporadically for over 130 years.1,2 In 1961, Williams reported 4 patients with SVAS who shared syndromic… read more here.
Keywords: supravalvular aortic; elastin deficiency; aortic stenosis; elastin ... See more keywords
Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1059640
Abstract: Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis… read more here.
Keywords: supravalvular aortic; gene mutations; aortic stenosis; identification characterization ... See more keywords